Canonical Allele Identifier: CA227600

Gene: TYR

Linked Data

• ClinVar Variation Id: 3796
• ClinVar RCV Id: RCV000004000 ; RCV000085979 ; RCV000755072 ; RCV003156055 ; RCV003460423 ; RCV003492282 ; RCV003488321
• dbSNP Id: rs61754375
• ExAC: 11:88924446 G / A
• gnomAD v2: 11-88924446-G-A
• gnomAD v3: 11-89191278-G-A
• gnomAD v4: 11-89191278-G-A
• COSMIC: COSM5168422
• MyVariant Identifiers: chr11:g.88924446G>A (hg19) ; chr11:g.89191278G>A (hg38)
• PubMed: PMID:1642278 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89191278G>A , CM000673.2:g.89191278G>A	GRCh38
NC_000011.9:g.88924446G>A , CM000673.1:g.88924446G>A	GRCh37
NC_000011.8:g.88564094G>A	NCBI36
NG_008748.1:g.18407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.896G>A MANE Select	ENSP00000263321.4:p.Arg299His
ENST00000263321.5:c.896G>A	ENSP00000263321.4:p.Arg299His
ENST00000526139.1:n.957G>A
NM_000372.4:c.896G>A	NP_000363.1:p.Arg299His
XM_011542970.1:c.896G>A	XP_011541272.1:p.Arg299His
XM_011542970.2:c.896G>A	XP_011541272.1:p.Arg299His
XR_001748321.1:n.2718-77745C>T
XR_001748322.1:n.2733-77745C>T
NM_000372.5:c.896G>A MANE Select	NP_000363.1:p.Arg299His